Identifier |
20200308_nanos_posters_148 |
Title |
Duane's Syndrome and a New Neurodevelopmental Disorder: The MED13L Syndrome - A Case Report |
Creator |
Marianne Forsberg |
Affiliation |
Aleris, Angelholm, Sweden |
Subject |
Pediatric Neuro-ophthalmology |
Description |
The Mediator complex is an important regulator of transcription. The activity of the Mediator complex is regulated by several subunits encoded by 26 genes in humans. In recent years, the Mediator complex subunit 13-like gene (MED13L MIM:608771) has been linked to congenital cardiac disease and neurodevelopmental delay. |
Date |
2020-03 |
Language |
eng |
Format |
application/pdf |
Type |
Text |
Source |
2020 North American Neuro-Ophthalmology Society Annual Meeting |
Relation is Part of |
NANOS Annual Meeting 2020: Poster Session I: Clinical Highlights |
Collection |
Neuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu |
Publisher |
Spencer S. Eccles Health Sciences Library, University of Utah |
Holding Institution |
North American Neuro-Ophthalmology Association. NANOS Executive Office 5841 Cedar Lake Road, Suite 204, Minneapolis, MN 55416 |
Rights Management |
Copyright 2020. For further information regarding the rights to this collection, please visit: https://NOVEL.utah.edu/about/copyright |
ARK |
ark:/87278/s6zw6vmv |
Context URL |
The NANOS Annual Meeting Neuro-Ophthalmology Collection: https://novel.utah.edu/collection/NAM/toc/ |
Setname |
ehsl_novel_nam |
ID |
1539375 |
Reference URL |
https://collections.lib.utah.edu/ark:/87278/s6zw6vmv |